Classifications of neurogenetic diseases: An increasingly complex problem

Rev Neurol (Paris). 2016 Jun-Jul;172(6-7):339-49. doi: 10.1016/j.neurol.2016.04.005. Epub 2016 May 27.

Abstract

Neurodegenerative disorders represent a wide group of diseases affecting the central and/or peripheral nervous system. Many of these disorders were described in the 19th century, but our genetic knowledge of them is recent (over the past 25 years). However, the continual discovery of disease-causing gene mutations has led to difficulties in the classification of these diseases. For this reason, our present proposals for updating and simplifying the classification of some of these conditions (Charcot-Marie-Tooth diseases, distal hereditary motor neuropathies, hereditary sensory and autonomic neuropathies, hereditary spastic ataxias, hereditary spastic paraplegias and hereditary spastic ataxias) are expounded here.

Keywords: Cerebellar ataxia; Charcot–Marie–Tooth; Classification; HSAN; Spastic paraplegia.

Publication types

  • Review

MeSH terms

  • Cerebellar Ataxia / classification
  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / genetics
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics
  • Genetic Association Studies
  • Hereditary Sensory and Autonomic Neuropathies / classification*
  • Hereditary Sensory and Autonomic Neuropathies / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Humans
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Neurodegenerative Diseases / classification
  • Neurodegenerative Diseases / genetics
  • Spastic Paraplegia, Hereditary / classification
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics

Substances

  • Nerve Tissue Proteins